Glycogen Storage Disease Type VII (Tarui's Disease)

An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.

Also Known As:

Tarui's Disease; Deficiency, Muscle Phosphofructokinase; GSD VII; Glycogen Storage Disease VII; Muscle Phosphofructokinase Deficiency; Pfkm Deficiency; Deficiencies, Muscle Phosphofructokinase; Deficiencies, Pfkm; Deficiency, Pfkm; Disease, Tarui; Disease, Tarui's; Muscle Phosphofructokinase Deficiencies; Pfkm Deficiencies; Phosphofructokinase Deficiencies, Muscle; Phosphofructokinase Deficiency, Muscle; Taruis Disease; Glycogenosis 7; Tarui Disease

Networked: 60 relevant articles (2 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Glycogen Storage Disease Type V (McArdle's Disease)
2.	Glycogen Storage Disease (Glycogenosis)
3.	Glycogen Storage Disease Type VII (Tarui's Disease)
4.	Gilbert Disease
5.	Muscular Diseases (Myopathy)

Experts

1.	Ronquist, G: 3 articles (12/2003 - 01/2001)
2.	Waldenström, A: 3 articles (12/2003 - 01/2001)
3.	Auranen, Mari: 2 articles (01/2020 - 01/2016)
4.	Similä, Minna E: 2 articles (01/2020 - 01/2016)
5.	Musumeci, Olimpia: 2 articles (01/2019 - 04/2012)
6.	Toscano, Antonio: 2 articles (01/2019 - 04/2012)
7.	Finsterer, Josef: 2 articles (01/2008 - 12/2002)
8.	Stöllberger, Claudia: 2 articles (01/2008 - 12/2002)
9.	Engström, I: 2 articles (01/2001 - 01/2001)
10.	Piirilä, Päivi Liisa: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Glycogen Storage Disease Type VII:

1.	Oxygen (Dioxygen)IBA 01/01/2020 - "Conclusions: This study is the first to show a long-term effect of KD in GSD VII with an alleviation of muscle symptoms, beneficial effects on breathing, and improvement in exercise performance and oxygen uptake. "
2.	Glucagon (Glukagon)FDA Link 09/01/1984 - "Pretreatment with glucagon relieved patients with McArdle disease from muscular symptoms during exercise and enhanced exercise performance, though it did not produce any improvement in patients with Tarui disease. " 09/01/1984 - "A comparative study on glucagon effect between McArdle disease and Tarui disease." 09/01/1984 - "In addition, the semi-ischemic forearm exercise tests performed after glucagon injection showed that increased lactate production was significantly induced by exercise in McArdle disease, but it was not the case in Tarui disease. "
3.	PhosphofructokinasesIBA 04/10/2002 - "[Contribution of Japanese researchers to the progress of studies in endocrinology and metabolism in the field of internal medicine in the last 100 years: Tarui's disease(muscular phosphofructokinase deficiency)]." 08/01/2013 - "FIET and EE were non-contributive to diagnosis, but 31P-NMR provided a characteristic spectra of Tarui's disease, in agreement with phosphofructokinase activity level in erythrocytes. " 10/01/2011 - "Similarly, the multisystemic infantile presentation of phosphofructokinase deficiency (GSD VII) is a conundrum. " 10/01/2007 - "Phosphofructokinase deficiency (Tarui disease) was the first disorder recognized to directly affect glycolysis. " 01/01/1995 - "Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease)."
4.	Lactic Acid (Lactate)FDA LinkGeneric 01/01/2016 - "A late increase of lactate about three times the basal level was seen 10-30 min after exercise in patients with Tarui disease being higher than in McArdle disease and lower than in the controls. " 01/01/2016 - "Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease." 01/01/2016 - "Two siblings with Tarui disease, two patients with McArdle disease and eight healthy controls were tested on spiroergometric exercise tests with follow-up of venous lactate and ammonia. " 09/01/1984 - "In addition, the semi-ischemic forearm exercise tests performed after glucagon injection showed that increased lactate production was significantly induced by exercise in McArdle disease, but it was not the case in Tarui disease. " 01/01/2020 - "The aim of this study was to determine whether a dietary intervention with excessive fat intake would benefit GSD VII. Patient and Methods: A ketogenic diet (KD) intervention implemented as a modified Atkins diet was established for one patient with PFKM deficiency, with a low late lactate response and very high ammonia levels associated with exercise. "
5.	AmmoniaIBA 01/01/2016 - "Ammonia was increased in Tarui disease. " 01/01/2016 - "Two siblings with Tarui disease, two patients with McArdle disease and eight healthy controls were tested on spiroergometric exercise tests with follow-up of venous lactate and ammonia. " 01/01/2020 - "The aim of this study was to determine whether a dietary intervention with excessive fat intake would benefit GSD VII. Patient and Methods: A ketogenic diet (KD) intervention implemented as a modified Atkins diet was established for one patient with PFKM deficiency, with a low late lactate response and very high ammonia levels associated with exercise. " 08/01/1985 - "Basal lactate concentrations lowered in every patient with glycogen storage disease type V or type VII. Two patients with glycogen storage disease type VII, who had markedly elevated concentrations of serum uric acid (14.3 and 11.9 mg/dl, respectively), showed high basal concentrations of ammonia (118 and 79 mumol/liter, respectively; 23 +/- 4 mumol/liter in healthy controls) and of hypoxanthine (23.4 and 20.4 mumol/liter, respectively; 2.0 +/- 0.4 mumol/liter in healthy controls). "
6.	Glucuronosyltransferase (UDP Glucuronosyltransferase)IBA 06/01/1990 - "Phosphofructokinase deficiency (Tarui disease) associated with hepatic glucuronyltransferase deficiency (Gilbert's syndrome): a case and family study."
7.	Insulin (Novolin)FDA Link 08/01/1999 - "To evaluate a possible link between inherited PFK1-M deficiency in humans (Tarui's disease or glycogenosis type VII) and altered insulin oscillations, in vivo studies were performed. "
8.	GlycogenIBA 01/01/2008 - "Progression of Tarui's disease may manifest as progressive thickening of the heart valves due to glycogen storage. " 01/01/2016 - "Glycogen storage disease V (GSDV, McArdle disease) and GSDVII (Tarui disease) are the most common of the rare disorders of glycogen metabolism. " 01/13/2004 - "Muscle phosphofructokinase deficiency (PFKD) blocks the metabolism of muscle glycogen and blood glucose. " 06/01/1990 - "Tarui disease is a rare, genetically determined glycogen storage myopathy caused by the total lack of phosphofructokinase (PFK) enzymatic activity in the muscles and partially deficient enzymatic activity in the erythrocytes. " 04/01/2012 - "Muscle phosphofructokinase (PFKM) deficiency, a rare disorder of glycogen metabolism also known as glycogen storage disease type VII (GSDVII), is characterized by exercise intolerance, myalgias, cramps and episodic myoglobinuria associated with compensated hemolytic anaemia and hyperuricemia. "
9.	Glucose (Dextrose)FDA LinkGeneric 09/01/1996 - "Paradoxically enhanced glucose production during exercise in humans with blocked glycolysis caused by muscle phosphofructokinase deficiency." 08/01/2009 - "PFKM deficiency is considered as a skeletal muscle glycogenosis, but the relative contribution of altered glucose metabolism in other tissues to the pathogenesis of the disease is not fully understood. " 02/07/1991 - "Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency." 01/01/1995 - "Glucose infusion therefore accelerates the energy crisis in working muscle of patients with glycogen storage disease type VII, probably due to a decrease in fatty acid utilization." 01/01/1995 - "We investigated the effect of glucose infusion on adenosine triphosphate degradation in skeletal muscle of patients with glycogen storage disease type VII. Three patients and six healthy subjects exercised on a bicycle ergometer twice, once with 20% glucose infusion and once with saline infusion. "
10.	EnzymesIBA 01/01/1999 - "Phosphofructo-1-kinase (PFK1) is a rate limiting enzyme in glycolysis, and its muscle subtype (PFK1-M) deficiency leads to an autosomal recessively inherited disorder known as glycogenosis type VII or Tarui's disease. " 12/01/1997 - "Phosphofructo-1-kinase (PFK1) is a rate-limiting enzyme in glycolysis, and its muscle subtype (PFK1-M) deficiency leads to the autosomal recessively inherited glycogenosis type VII Tarui's disease. " 11/01/1980 - "Muscle phosphofructokinase deficiency: two cases with unusual polysaccharide accumulation and immunologically active enzyme protein." 01/01/2019 - "Glycogenosis VII (GSD VII) is a rare autosomal recessive glycogen storage disorder caused by mutations in the PFKM gene encoding the phosphofructokinase (PFK) enzyme. "

Therapies and Procedures

1.	Ketogenic Diet 01/01/2020 - "Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII)." 01/01/2020 - "The aim of this study was to determine whether a dietary intervention with excessive fat intake would benefit GSD VII. Patient and Methods: A ketogenic diet (KD) intervention implemented as a modified Atkins diet was established for one patient with PFKM deficiency, with a low late lactate response and very high ammonia levels associated with exercise. "
2.	High-Protein Low-Carbohydrate Diet (Atkins Diet) 01/01/2020 - "The aim of this study was to determine whether a dietary intervention with excessive fat intake would benefit GSD VII. Patient and Methods: A ketogenic diet (KD) intervention implemented as a modified Atkins diet was established for one patient with PFKM deficiency, with a low late lactate response and very high ammonia levels associated with exercise. "
3.	Activities of Daily Living (ADL) 10/01/1989 - "First we performed magnetic resonance imaging (MRI) of the extremities as a screening test for the detection of muscle abnormalities incurred in activities of daily living in four patients with myophosphorylase deficiency (MPD) and three with muscle phosphofructokinase deficiency (PFKD). "